Preferred Label : 21q deletion;
ICD-11 definition : Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions
of a segment of the long arm of chromosome 21 that leads to an increased risk of birth
defects, developmental delay and intellectual deficit.;
ICD-11 synonym : 21q syndrome; Monosomy 21; Partial 21q monosomy;
Origin ID : 47014571;
Currated CISMeF NLP mapping
Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions
of a segment of the long arm of chromosome 21 that leads to an increased risk of birth
defects, developmental delay and intellectual deficit.
